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List of works by Miryam Carecchio

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

scientific article published on 26 September 2017

A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.

scientific article published on 24 May 2016

ATP1A3-related disorders: An update.

scientific article published on 21 December 2017

Adult diagnosis of Cockayne syndrome

scientific article published on 01 November 2019

CANS: Childhood acute neuropsychiatric syndromes

scientific article published in February 2018

Cerebrospinal fluid biomarkers in Progranulin mutations carriers

scientific article published in January 2011

Corrigendum to "Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum" [Brain Dev. 41 (2019) 250-256]

scientific article published on 30 April 2019

DYT2 screening in early-onset isolated dystonia.

scientific article published on 13 October 2016

Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria

scientific article published on 15 May 2013

Diagnosis and treatment of pediatric onset isolated dystonia.

scientific article published on 17 January 2018

Emerging Monogenic Complex Hyperkinetic Disorders.

scientific article published on 30 October 2017

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

scientific article published on 16 August 2018

Evidence of Pre-Synaptic Dopaminergic Deficit in a Patient with a Novel Progranulin Mutation Presenting with Atypical Parkinsonism†

scientific article published on 01 January 2014

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

scientific article published on 19 June 2019

Growth Arrest Specific 6 Concentration is Increased in the Cerebrospinal Fluid of Patients with Alzheimer's Disease.

scientific article

Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay

scientific article published in December 2015

Inborn errors of coenzyme A metabolism and neurodegeneration

scientific article published on 01 January 2019

Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation

scientific article published on 10 May 2019

MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism

scientific article published on 20 February 2020

Movement disorders in adult patients with classical galactosemia

scientific article

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype

scientific article

Osteopontin is increased in the cerebrospinal fluid of patients with Alzheimer's disease and its levels correlate with cognitive decline.

scientific article published in January 2010

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

scientific article published on 06 December 2019

Parkinson disease in Gaucher disease.

scientific article

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy

scientific article published on 21 August 2017

Phenotypic Heterogeneity of the GRN Asp22fs Mutation in a Large Italian Kindred

article

Primary brain calcification: an international study reporting novel variants and associated phenotypes

scientific article published on 28 June 2018

Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease

scientific article published on 14 August 2009

Recent advances in genetics of chorea

scientific article published on June 2016

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum

scientific article published on 21 October 2018

SPG5 siblings with different phenotypes showing reduction of 27-hydroxycholesterol after simvastatin-ezetimibe treatment.

scientific article published on 16 October 2017

Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12

scientific article published on 13 June 2019

Sudden hyposmia as a prevalent symptom of COVID-19 infection.

scientific article published on 07 April 2020

Teaching Neuro Images : Progressive asymmetric parkinsonism and tendon xanthomas ⬇️

scientific article published on October 25, 2011

The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease.

scientific article

The relevance of gene panels in movement disorders diagnosis: A lab perspective.

scientific article published on 29 January 2018

The syndrome of deafness-dystonia: clinical and genetic heterogeneity

scientific article published on 15 February 2013

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